Solve-RD will host a webinar in April to showcase the completely new graphical user interface of the RD-Connect Genome-Phenome Analysis Platform (GPAP) that will be released on the 22th of March. The webinar will focus on how to navigate through the platform and use some of the advanced new functionalities to (re)analyse your Solve-RD cases, including cohort level analysis and the use of Matchmaker Exchange.
Time: Wednesday, 12 April 2023; 1-2 pm CEST
Speaker: Leslie Matalonga, Steven Laurie & Sergi Beltran (CNAG-CRG)
Audience: All Solve-RD partners interested in analysing phenotypic and genomic data from the project. No prior experience analysing (filtering and prioritising) genomic data through the GPAP is required. Users will learn how to navigate through the new interface to filter and prioritise variants using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (PanelApp, OMIM, ORDO, HPO, Reactome). They will also learn how to easily interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser and Varsome to prioritise results. Furthermore, users will also learn how to use advanced features included in the system such as identifying other similar cases both internally, and around the world through the Matchmaker Exchange network and perform cohort level analyses.